Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.

ABSTRACT: This long-term observational study aimed to define the spectrum of genetic variation in a congenital hypothyroidism (CH) cohort and investigate the correlations between specific genotypes and clinical phenotypes, including treatment requirements and outcomes. We analyzed the maintenance dose of L-thyroxine (L-T4) at 6, 12, 18, and 24 months, alongside clinical outcomes after 3 years. Data were collected from the Neonatal Disease Screening Center at our hospital between January 2011 and March 2024. Of 247 patients with confirmed CH, 119 had available genetic testing and complete clinical information. The genetic positivity rate was 56.3% (67/119). DUOX2 was the most frequently mutated gene (28.57%), followed by TPO, TG, and TSHR. Phenotypic correlation analysis r

SUBMITTER: Su Y 

PROVIDER: S-EPMC12550986 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature